Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens and their applicability in diagnosis and disease prediction.
Betterle C, Dal Pra C, Mantero F, et al. Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens and their applicability in diagnosis and disease prediction. Endocr Rev 2002; 23:327-364.
Loss of enteroendocrine cells in autoimmune-polyendocrine-candidiasis-ectodermal dystrophy (APECED) syndrome with gastrointestinal dysfunction.
Posovszky C, Lahr G, von Schnurbein J, et al. Loss of enteroendocrine cells in autoimmune-polyendocrine-candidiasis-ectodermal dystrophy (APECED) syndrome with gastrointestinal dysfunction. J Clin Endocrinol Metab 2012; 97:E292-E300.
Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome.
Barzaghi F, Passerini L, Gambineri E, et al. Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome. J Autoimm 2012; 38:49-58.
Congenital diarrheal disorders: Improved understanding of gene defects is leading to advances in intestinal physiology and clinical management.
Berni Canani R, Terrin G, Cardillo G, et al. Congenital diarrheal disorders: Improved understanding of gene defects is leading to advances in intestinal physiology and clinical management. J Pediatr Gastroenterol Nutr 2010; 50:360-366.
Regulatory T cell defect in APECED patients is associated with loss of naive FOXP3 precursors and impaired activated population.
Laakso SM, Laurinolli TT, Rossi LH, et al. Regulatory T cell defect in APECED patients is associated with loss of naive FOXP3+ precursors and impaired activated population. J Autoimmun 2010; 35:351-357.
